Canonical Allele Identifier: CA415185364

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649012A>C (hg19) ; chrX:g.154420673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420673A>C , CM000685.2:g.154420673A>C	GRCh38
NC_000023.10:g.153649012A>C , CM000685.1:g.153649012A>C	GRCh37
NC_000023.9:g.153302206A>C	NCBI36
NG_009634.1:g.14136A>C
NG_009634.2:g.14139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1525A>C
ENST00000698317.1:n.2141A>C
ENST00000698318.1:n.1924A>C
ENST00000698319.1:n.1287A>C
ENST00000698320.1:n.1175A>C
ENST00000470127.2:n.1188A>C
ENST00000475699.6:c.679A>C	ENSP00000419854.3:p.Ile227Leu
ENST00000483674.3:n.597A>C
ENST00000601016.6:c.715A>C MANE Select	ENSP00000469981.1:p.Ile239Leu
ENST00000612012.5:c.673A>C	ENSP00000482070.2:p.Ile225Leu
ENST00000612460.5:c.625A>C	ENSP00000481037.1:p.Ile209Leu
ENST00000614595.2:n.2062A>C
ENST00000615658.5:n.1304A>C
ENST00000616020.5:c.727A>C	ENSP00000483636.2:p.Ile243Leu
ENST00000617701.5:c.*728A>C	ENSP00000481645.1:n.*728A>C
ENST00000651139.1:c.-69A>C	ENSP00000498957.1:n.-69A>C
ENST00000652354.1:c.397A>C	ENSP00000498734.1:p.Ile133Leu
ENST00000652358.1:c.508A>C	ENSP00000498464.1:p.Ile170Leu
ENST00000652390.1:c.634A>C	ENSP00000498858.1:p.Ile212Leu
ENST00000652476.1:n.1381A>C
ENST00000652644.1:c.328A>C	ENSP00000498496.1:p.Ile110Leu
ENST00000652682.1:c.772A>C	ENSP00000498288.1:p.Ile258Leu
ENST00000652685.1:n.1068A>C
ENST00000369776.8:c.625A>C	ENSP00000358791.4:p.Ile209Leu
ENST00000426231.5:c.712A>C
ENST00000475699.5:c.673A>C	ENSP00000419854.2:p.Ile225Leu
ENST00000494912.5:n.1404A>C
ENST00000498029.1:n.173A>C
ENST00000601016.5:c.715A>C	ENSP00000469981.1:p.Ile239Leu
ENST00000612460.4:c.625A>C	ENSP00000481037.1:p.Ile209Leu
ENST00000613002.4:c.583A>C	ENSP00000478154.1:p.Ile195Leu
ENST00000615986.4:c.*443A>C	ENSP00000480133.1:n.*443A>C
NM_000116.4:c.715A>C	NP_000107.1:p.Ile239Leu
NM_001303465.1:c.727A>C	NP_001290394.1:p.Ile243Leu
NM_181311.3:c.625A>C	NP_851828.1:p.Ile209Leu
NM_181312.3:c.673A>C	NP_851829.1:p.Ile225Leu
NM_181313.3:c.583A>C	NP_851830.1:p.Ile195Leu
NR_024048.2:n.1057A>C
XM_006724836.1:c.769A>C	XP_006724899.1:p.Ile257Leu
XM_006724837.1:c.754A>C	XP_006724900.1:p.Ile252Leu
XM_006724839.1:c.637A>C	XP_006724902.1:p.Ile213Leu
XM_006724841.2:c.508A>C	XP_006724904.1:p.Ile170Leu
XM_006724842.2:c.418A>C	XP_006724905.1:p.Ile140Leu
XM_011531189.1:c.556A>C	XP_011529491.1:p.Ile186Leu
XM_011531190.1:c.508A>C	XP_011529492.1:p.Ile170Leu
XM_011531191.1:c.439A>C	XP_011529493.1:p.Ile147Leu
XM_011531192.1:c.436A>C	XP_011529494.1:p.Ile146Leu
XR_938511.1:n.1063A>C
XM_006724841.4:c.508A>C	XP_006724904.1:p.Ile170Leu
XM_006724842.4:c.418A>C	XP_006724905.1:p.Ile140Leu
XM_011531191.2:c.439A>C	XP_011529493.1:p.Ile147Leu
XM_017029761.1:c.700A>C	XP_016885250.1:p.Ile234Leu
XM_017029762.1:c.679A>C	XP_016885251.1:p.Ile227Leu
XM_017029763.1:c.502A>C	XP_016885252.1:p.Ile168Leu
XM_017029764.1:c.436A>C	XP_016885253.1:p.Ile146Leu
XM_017029765.2:c.376A>C	XP_016885254.1:p.Ile126Leu
XM_024452431.1:c.673A>C	XP_024308199.1:p.Ile225Leu
NM_000116.5:c.715A>C MANE Select	NP_000107.1:p.Ile239Leu
NM_001303465.2:c.727A>C	NP_001290394.1:p.Ile243Leu
NM_181311.4:c.625A>C	NP_851828.1:p.Ile209Leu
NM_181312.4:c.673A>C	NP_851829.1:p.Ile225Leu
NM_181313.4:c.583A>C	NP_851830.1:p.Ile195Leu
NR_024048.3:n.1036A>C